ClinVar for Gene (Select 51715) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358766	NM_016277.5(RAB23):c.575-10A>G	RAB23	Single nucleotide variant (intron variant)	RAB23-related disorder	GUncertain significance
Select item 3357726	NM_016277.5(RAB23):c.156A>G (p.Gln52=)	RAB23	Single nucleotide variant (synonymous variant)	RAB23-related disorder	GLikely benign
Select item 3357392	NM_016277.5(RAB23):c.505T>C (p.Tyr169His)	RAB23 (Y169H)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3357168	NM_016277.5(RAB23):c.398+6del	RAB23	Deletion (intron variant)	RAB23-related disorder	GLikely benign
Select item 3356399	NM_016277.5(RAB23):c.28A>G (p.Ile10Val)	RAB23 (I10V)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3355115	NM_016277.5(RAB23):c.631G>A (p.Gly211Ser)	RAB23 (G211S)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3354742	NM_016277.5(RAB23):c.-6C>T	RAB23	Single nucleotide variant (5 prime UTR variant +1 more)	RAB23-related disorder	GLikely benign
Select item 3353751	NM_016277.5(RAB23):c.587C>A (p.Thr196Lys)	RAB23 (T196K)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3351933	NM_016277.5(RAB23):c.335G>T (p.Gly112Val)	RAB23 (G112V)	Single nucleotide variant (missense variant)	RAB23-related disorder	GUncertain significance
Select item 3350846	NM_016277.5(RAB23):c.341T>C (p.Ile114Thr)	RAB23 (I114T)	Single nucleotide variant (missense variant)	RAB23-related disorder	GUncertain significance
Select item 3349295	NM_016277.5(RAB23):c.17_18delinsAT (p.Met6Asn)	RAB23 (M6N)	Indel (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3348549	NM_016277.5(RAB23):c.575-11_575-10del	RAB23	Deletion (intron variant)	RAB23-related disorder	GLikely benign
Select item 3348520	NM_016277.5(RAB23):c.530T>C (p.Ile177Thr)	RAB23 (I177T)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3348277	NM_016277.5(RAB23):c.577G>T (p.Val193Phe)	RAB23 (V193F)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3347953	NM_016277.5(RAB23):c.32A>G (p.Lys11Arg)	RAB23 (K11R)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3347625	NM_016277.5(RAB23):c.653G>C (p.Arg218Thr)	RAB23 (R218T)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3347444	NM_016277.5(RAB23):c.15T>A (p.Asp5Glu)	RAB23 (D5E)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3347427	NM_016277.5(RAB23):c.563G>A (p.Ser188Asn)	RAB23 (S188N)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3346711	NM_016277.5(RAB23):c.664C>A (p.Gln222Lys)	RAB23 (Q222K)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3346497	NM_016277.5(RAB23):c.608G>A (p.Gly203Asp)	RAB23 (G203D)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 3245988	NC_000006.11:g.(?_57061071)_(57061424_?)del	RAB23	Deletion	Carpenter syndrome	GPathogenic
Select item 3245987	NC_000006.11:g.(?_57075004)_(57075178_?)del	RAB23	Deletion	Carpenter syndrome	GPathogenic
Select item 3150639	NM_016277.5(RAB23):c.706A>G (p.Ile236Val)	RAB23 (I236V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3150638	NM_016277.5(RAB23):c.386C>A (p.Ser129Tyr)	RAB23 (S129Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150637	NM_016277.5(RAB23):c.385T>G (p.Ser129Ala)	RAB23 (S129A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062901	GRCh37/hg19 6p11.2(chr6:57012713-57283544)x1	BAG2, RAB23 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3057917	NM_016277.5(RAB23):c.252T>G (p.Ala84=)	RAB23	Single nucleotide variant (synonymous variant)	RAB23-related disorder	GLikely benign
Select item 3046188	NM_016277.5(RAB23):c.236A>G (p.Tyr79Cys)	RAB23 (Y79C)	Single nucleotide variant (missense variant)	RAB23-related disorder	GUncertain significance
Select item 3008390	NM_016277.5(RAB23):c.313_316del (p.Glu105fs)	RAB23 (E105fs)	Microsatellite (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 2990046	NM_016277.5(RAB23):c.482-20del	RAB23	Deletion (intron variant)	Carpenter syndrome	GLikely benign
Select item 2974798	NM_016277.5(RAB23):c.482-20G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2967234	NM_016277.5(RAB23):c.482-14T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2915867	NM_016277.5(RAB23):c.241+16T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome +1 more	GLikely benign
Select item 2912974	NM_016277.5(RAB23):c.482-12T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2912344	NM_016277.5(RAB23):c.165T>C (p.Asp55=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2911284	NM_016277.5(RAB23):c.242-20G>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2910346	NM_016277.5(RAB23):c.399-15T>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2909119	NM_016277.5(RAB23):c.495G>A (p.Leu165=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2897334	NM_016277.5(RAB23):c.155+11G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2884266	NM_016277.5(RAB23):c.156-20_156-17del	RAB23	Microsatellite (intron variant)	Carpenter syndrome	GLikely benign
Select item 2881263	NM_016277.5(RAB23):c.155+17T>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2861572	NM_016277.5(RAB23):c.574+20T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2855081	NM_016277.5(RAB23):c.482-10T>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2843283	NM_016277.5(RAB23):c.474G>A (p.Val158=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2841795	NM_016277.5(RAB23):c.12A>G (p.Glu4=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2839241	NM_016277.5(RAB23):c.156-8T>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2837068	NM_016277.5(RAB23):c.242-7C>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2827988	NM_016277.5(RAB23):c.430_431del (p.Lys144fs)	RAB23 (K144fs)	Deletion (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 2827064	NM_016277.5(RAB23):c.357G>A (p.Val119=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2823095	NM_016277.5(RAB23):c.207G>A (p.Glu69=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2813651	NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA	RAB23	Indel (splice donor variant)	Carpenter syndrome	GLikely pathogenic
Select item 2800203	NM_016277.5(RAB23):c.156-14A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2796744	NM_016277.5(RAB23):c.552G>T (p.Thr184=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2780997	NM_016277.5(RAB23):c.481+19A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2778908	NM_016277.5(RAB23):c.155+11G>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2772848	NM_016277.5(RAB23):c.27C>T (p.Ala9=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2770426	NM_016277.5(RAB23):c.398+18G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2769470	NM_016277.5(RAB23):c.126T>C (p.Ile42=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2766912	NM_016277.5(RAB23):c.481+16del	RAB23	Deletion (intron variant)	Carpenter syndrome	GLikely benign
Select item 2763639	NM_016277.5(RAB23):c.481+18del	RAB23	Deletion (intron variant)	Carpenter syndrome	GLikely benign
Select item 2760259	NM_016277.5(RAB23):c.48G>A (p.Gly16=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2755781	NM_016277.5(RAB23):c.321A>C (p.Val107=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2748089	NM_016277.5(RAB23):c.177A>G (p.Arg59=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2746474	NM_016277.5(RAB23):c.525A>G (p.Gln175=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2745418	NM_016277.5(RAB23):c.312A>G (p.Arg104=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2741492	NM_016277.5(RAB23):c.575-15C>T	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2740005	NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)	RAB23 (R80*)	Single nucleotide variant (nonsense)	Carpenter syndrome	GPathogenic
Select item 2739917	NM_016277.5(RAB23):c.242-17_242-16insATTC	RAB23	Insertion (intron variant)	Carpenter syndrome	GLikely benign
Select item 2738233	NM_016277.5(RAB23):c.575-12C>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2733373	NM_016277.5(RAB23):c.57A>C (p.Ala19=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2704863	NM_016277.5(RAB23):c.48G>T (p.Gly16=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2698131	NM_016277.5(RAB23):c.273C>G (p.Thr91=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2691650	NM_016277.5(RAB23):c.467del (p.Leu156fs)	RAB23 (L156fs)	Deletion (frameshift variant)	Carpenter syndrome	GPathogenic
Select item 2656683	NM_016277.5(RAB23):c.174C>T (p.Val58=)	RAB23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634228	NM_016277.5(RAB23):c.262G>A (p.Val88Met)	RAB23 (V88M)	Single nucleotide variant (missense variant)	RAB23-related disorder	GUncertain significance
Select item 2634036	NM_016277.5(RAB23):c.546A>C (p.Glu182Asp)	RAB23 (E182D)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 2632287	NM_016277.5(RAB23):c.395A>C (p.Lys132Thr)	RAB23 (K132T)	Single nucleotide variant (missense variant)	RAB23-related disorder	GUncertain significance
Select item 2630705	NM_016277.5(RAB23):c.17T>C (p.Met6Thr)	RAB23 (M6T)	Single nucleotide variant (missense variant +1 more)	RAB23-related disorder	GUncertain significance
Select item 2628011	NM_016277.5(RAB23):c.17T>G (p.Met6Arg)	RAB23 (M6R)	Single nucleotide variant (missense variant +1 more)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2618336	NM_016277.5(RAB23):c.86A>G (p.Tyr29Cys)	RAB23 (Y29C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612761	NM_016277.5(RAB23):c.365A>G (p.Lys122Arg)	RAB23 (K122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472666	NM_016277.5(RAB23):c.425G>C (p.Arg142Thr)	RAB23 (R142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435349	NM_016277.5(RAB23):c.-66+5021dup	RAB23	Duplication (intron variant)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 2416591	NM_016277.5(RAB23):c.574+7A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2381679	NM_016277.5(RAB23):c.412G>A (p.Ala138Thr)	RAB23 (A138T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307188	NM_016277.5(RAB23):c.131T>C (p.Val44Ala)	RAB23 (V44A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284013	NM_016277.5(RAB23):c.224C>G (p.Thr75Arg)	RAB23 (T75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236631	NM_016277.5(RAB23):c.323T>C (p.Val108Ala)	RAB23 (V108A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228109	NM_016277.5(RAB23):c.705C>A (p.Ser235Arg)	RAB23 (S235R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205539	NM_016277.5(RAB23):c.611A>G (p.Gln204Arg)	RAB23 (Q204R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2190638	NM_016277.5(RAB23):c.481+17G>A	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GBenign
Select item 2141084	NM_016277.5(RAB23):c.279T>C (p.Asp93=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2140925	NM_016277.5(RAB23):c.399-7T>C	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome	GLikely benign
Select item 2132016	NM_016277.5(RAB23):c.376C>T (p.Leu126=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2129610	NM_016277.5(RAB23):c.156-9_156-8del	RAB23	Deletion (intron variant)	Carpenter syndrome	GLikely benign
Select item 2120775	NM_016277.5(RAB23):c.481+1G>A	RAB23	Single nucleotide variant (splice donor variant)	Carpenter syndrome	GLikely pathogenic
Select item 2119781	NM_016277.5(RAB23):c.273C>T (p.Thr91=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 2114151	NM_016277.5(RAB23):c.522dup (p.Gln175fs)	RAB23 (Q175fs)	Duplication (frameshift variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 2113604	NM_016277.5(RAB23):c.21A>G (p.Glu7=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 2103635	NM_016277.5(RAB23):c.399-15dup	RAB23	Duplication (intron variant)	Carpenter syndrome	GBenign

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